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Thursday, May 15, 2008
Champagne Terrace/Bordeaux (Novotel London West)
Background: Autism is a neuropsychiatric disorder that can coexist with a variety of medical conditions. It is shown in the previous studies that muscular dystrophies, such as Duchenne muscular dystrophy or myotonic dystrophy, may also be associated with autism.
Objectives: The authors report a patient with merosin deficient congenital muscular dystrophy (MDCMD) who had autistic disorder. Although coexistence of autism and some other variants of muscular dystrophies were described, this association has never been reported with MDCMD.
Methods: A 37-months-old girl who had been previously diagnosed with MDCMD and referred to a child and adolescent psychiatry department for developmental evaluation was assessed via clinical observation, a rating scale and a semi structured interview form.
Results: Developmental history was obtained from her parents. She had severe muscle weakness which renders her unable to walk. Her language was delayed and there was no meaningful speech. Developmental delays were also documented by developmental testing. Parents also reported that she had lack of social interest. In clinical setting, she was observed to be having poor eye contact, peripheral gazing, stereotypic hand and body movements and lack of gestures. She had lack of joint attention and there was no imitative play. Subsequent psychiatric assessment with a semi-structured Autism Diagnostic Interview Form proved that the child met diagnostic criteria for autistic disorder. Her total score in Childhood Autism Rating Scale was 46, as well.
Conclusions: This case indicates that autism may coexist with MDCMD. It also suggests a previously unreported association between MDCMD and autism, and underlines the importance of neurological examination in children with autism spectrum disorders.
Objectives: The authors report a patient with merosin deficient congenital muscular dystrophy (MDCMD) who had autistic disorder. Although coexistence of autism and some other variants of muscular dystrophies were described, this association has never been reported with MDCMD.
Methods: A 37-months-old girl who had been previously diagnosed with MDCMD and referred to a child and adolescent psychiatry department for developmental evaluation was assessed via clinical observation, a rating scale and a semi structured interview form.
Results: Developmental history was obtained from her parents. She had severe muscle weakness which renders her unable to walk. Her language was delayed and there was no meaningful speech. Developmental delays were also documented by developmental testing. Parents also reported that she had lack of social interest. In clinical setting, she was observed to be having poor eye contact, peripheral gazing, stereotypic hand and body movements and lack of gestures. She had lack of joint attention and there was no imitative play. Subsequent psychiatric assessment with a semi-structured Autism Diagnostic Interview Form proved that the child met diagnostic criteria for autistic disorder. Her total score in Childhood Autism Rating Scale was 46, as well.
Conclusions: This case indicates that autism may coexist with MDCMD. It also suggests a previously unreported association between MDCMD and autism, and underlines the importance of neurological examination in children with autism spectrum disorders.